bluuebunny/crossref_metadata_2025 huggingface dataset:
Assessing the impact of the All‐Wales Mental HandicaStrategy: a survey of four districts
Authors: EVANS G. , TODD S. , BEYER S. , FELCE D. , PERRY J.
Published: July 2010

ABSTRACT. The All‐Wales Mental Handicap Strategy (AWS) pledged government leadership and additional resources for the task of developing community based residential, domiciliary, respite, daycare and professional services for people with mental handicaps and their families throughout Wales. Ultimately, the authors of the AWS sought to affect for the better the extent to which people with mental handicaps experience typical community life. A large random sample of people with mental handicaps in four diverse districts was used to track changes in services received, professional input, involvement in individual planning, the number of community activities pursued, and the size and range of individuals' social networks across the middle 4 years of the AWS. The balance between private housing and service residence remained unchanged although, with the ageing of the cohort, there was a decrease in the proportion living with parents and an increase in those living independently or in another family situation. There was an increase in the availability of residential services in the form of ordinary housing and an associated contraction in large congregate care facilities. However, not all moves were towards more ordinary living. Some people moved from large statutory sector specialist facilities to other atypical forms of residence, as did some people from family homes. Family support services in the form of family aides and short‐term care increased significantly, but indicators still suggest that an expansion of these services is merited. Day services diversified slightly, but without affecting the major role of the traditional center. There was a decrease in the numbers receiving a fulltime service. Only a third of the sample received regular individual plan reviews of the services they received and the developmental goals set in their name. In general, individuals were involved in a greater number of community activities that brought them into contact with other citizens. However, such an increase has not led to significant changes in the size or composition of people's friendship networks. Overall, the changes in service provision and family and user experience have been in line with the direction set by the AWS. However, the degree of change still required before the new pattern of services envisaged by the AWS is substantially in existence, or the experience of people with mental handicaps conforms with the guiding principles which underpin it, is considerably greater than that achieved after 7 of its initial 10 years.
Leisure activities of young adults not receiving mental handicap services who were in a special school for mental handicap as children
Authors: RICHARDSON S. A. , ROLLER H. , KATZ M.
Published: July 2010

ABSTRACT. The subjects of this study were 22‐year‐old adults who had attended a special school for children with mental handicap. Since leaving school, they had dropped out of the mental handicap services. The subjects' leisure activities were compared with peers who had always attended regular classes as children. The subjects engaged in fewer types of activities than the comparisons and had fewer activities that involved interpersonal relations, especially with non‐family peers. The size of these differences was influenced by marital status.
Fatal intestinal obstruction in the mentally handicapped
Authors: JANCAR J. , SPELLER C. J.
Published: July 2010

ABSTRACT. In a retrospective study of hospital records over a 50‐year period, data on 32 patients who died as a result of intestinal obstruction are presented and compared with comparison groups and national mortality statistics. There was a higher incidence and lower mean age at death of fatal intestinal obstruction compared with the total national population. The mean age at death significantly increased over the study period. Intestinal volvulus was a common cause of obstruction particularly in those with cerebral palsy. There was a high prevalence of chronic constipation and megacolon. Foreign‐body obstruction was de facto related to pica, but overall, there was a low prevalence of pica. Overall, mean IQ was low, but only significantly so in the male subjects. The length of acute illness was short; in 22 patients it was less than 24 h. Vomiting and abdominal distension were often absent and abdominal signs were recorded in only five patients. Pain or distress was recorded in only nine patients. Only eight patients were correctly diagnosed before death and only two had surgery. The results suggest that fatal intestinal obstruction is more common in mentally handicapped people and chronic constipation and megacolon are risk factors. Intestinal obstruction in mentally handicapped people can present late and with deceptively minimal signs and symptoms.
Music therapy, a description of process: engagement and avoidance in five people with learning disabilities
Authors: TOOLAN P. G. , COLEMAN S. Y.
Published: July 2010

ABSTRACT. A number of approaches exist within the field of music therapy. Some models for evaluating the efficacy of therapy have been adopted in the UK in recent years. These have measured the occurrence of specific behaviours within therapy, or compared music therapy with other interventions. There is a need to find reasonably reliable methods of describing change and the therapeutic process occurring within music therapy. This paper describes change occurring in five people with learning disabilities, in terms of their levels of engagement in therapy and in the therapeutic relationship. A method is provided to evaluate independent observers' perceptions of change in the patients over a 30‐session period of therapy. A significant increase in levels of engagement over time was found. It was also found that the degree of change over time was not related to the mean level of engagement. The present authors discuss some subtle factors involved in therapeutic engagement for the five patients in the study, and stress the importance of a therapy which emphasizes the dynamics of interpersonal communication for people with limited opportunities to express thoughts and emotions.
Correlates of interventions with self‐injurious behaviour
Authors: STERNBERG L. , TAYLOR R. L. , BABKIE A.
Published: July 2010

ABSTRACT. A review was conducted of published intervention research on the self‐injurious behaviour (SIB) of individuals with severe or profound mental retardation. The review comprised articles published between 1980 and 1990. Thirty‐eight biodemographic and environmental variables were investigated, with type of SIB and intervention type considered primary variable classes. Efficacy was also investigated as an additional variable. Cross‐tabulations were performed on selected variables with 24 significant and five marginally significant results obtained. These results indicated that there were possible biases in treatment approaches, problems in compliance with standards of practice, and differential efficacy levels related to certain variable types. Findings were discussed in relation to establishing a prototype for successful SIB interventions.
A study of expressed emotion in the parental primary carers of adolescents with intellectual impairment
Authors: DOSSETOR* D. R. , NICOL A. R. , STRETCH D. D. , RAJKHOWA S. J.
Published: July 2010

ABSTRACT.Expressed emotion (EE) was measured in the parental primary carer (carer) of 92 adolescents with intellectual impairment to examine its associated characteristics. High EE was mainly a result of high levels of emotional overinvolvement. High EE was associated with psychological illhealth, poor‐quality marriage and poor practical social support of the carer, and psychiatric disorder in the adolescent with intellectual impairment. This suggests that EE may be a useful indicator of coping difficulties in these families. The subgroup of high EE emotional overinvolvement was associated with a carer with more psychological illhealth, a worse‐quality marriage, less practical social support, greater professional support and an insecure style of respite care usage for an adolescent of greater intellectual impairment. The subgroup of criticism have an adolescent of less severe intellectual impairment, more behavioural disturbance and yet the carer has less professional support. Appreciation of the quality of the relationship of the carer with their dependent family member may enable greater understanding of how to improve the quality of life for both the carer and the cared for.
Is clumsiness a marker for Asperger syndrome?
Authors: GHAZIUDDIN M. , BUTLER E. , TSAI L. , GHAZIUDDIN N.
Published: July 2010

ABSTRACT. Although Asperger syndrome (AS) has been included in the ICD‐10 as a distinct category within the pervasive developmental disorders, it is still unclear to what extent it differs from normal‐intelligence autism (high‐functioning autism; HFA). Persons with AS are said to be particularly clumsy. To test the hypothesis that clumsiness can reliably distinguish AS from autism, the present authors compared 11 patients with AS (ICD‐10; 10 males; mean age, 13–6 years; mean IQ, 98) with nine patients with HFA (ICD‐10/DSM‐III‐R; eight males; mean age, 12–9 years; mean IQ, 84). Clumsiness was assessed by the Bruininks‐Oseretsky test. Both groups showed problems with coordination and the distribution of standard scores was virtually identical. This suggests that motor clumsiness, as measured by tests of coordination, may not reliably distinguish AS from HFA. However, qualitative differences may occur between the two groups in the manner in which movements are performed. Further research with larger samples may elicit differences into the pattern of motor deficits that occur in autism and AS.
Alterations in replication timing of X‐chromosome bands in Rett syndrome
Authors: Kormann‐Bortolotto M. H. , Webb T.
Published: July 2010

A cytogenetic study has been carried out on 30 girls affected with Rett syndrome, 35 of their family members and 25 unrelated healthy control females.

Karyotyping at the 850 band level revealed no detectable chromosome abnormalities in either the affected girls or their families. Observations on the sequence of the appearance of early replicating bands on both the active and the inactive X‐chromosome demonstrated the same replication patterns in all of the groups investigated with the exception that band Xp2i appeared with greater frequency in the Rett syndrome cells. A degree of variation was detected both between and within the subjects when the timing of the latest bands to replicate was investigated for the active X, but the same consensus order was obtained for all groups.

A comparable number of elongated X‐chromosomes was found in the girls with Rett syndrome (8%) when compared to their mothers (12%) when synchronized cells were treated with a short pulse of BrdU. If a disturbance in X‐inactivadon does contribute to the aetiology of Rett syndrome, it is at a level which is not detected by observations on the relative timing of replication of chromosome bands.
Electrophysiological correlates of psychopathology in individuals with mental retardation and epilepsy
Authors: Deb S.
Published: July 2010

One hundred adults with mental retardation and epilepsy were randomly selected from hospital and community settings for a detailed study of psychopathology (maladaptive behaviour, psychiatric illness and personality disorder). All of them had a recording of interictal EEG within the 12‐month study period. Of all the EEG recordings, nine were completely normal, 48 showed excessive slow background wave, and a further 43 showed epileptiform discharges. Of the 43 with epileptiform discharges in the EEG, 12 showed bilateral, diffuse, generalized activities (including 3 Hz abnormality), 18 showed temporal lobe focus (five left‐sided, four right‐sided and nine bilateral), and the other 13 showed secondary generalization from a temporal lobe focus. A comparison of psychopathology between the groups with a generalized epileptiform activity in the EEG (n= 12) and focal changes (n= 18) did not reveal any significant difference.
Autism in immigrants: children born in Sweden to mothers born in Uganda
Authors: Gillberg C. , Schaumann H. , Gillberg I. C.
Published: July 2010

Three boys diagnosed as suffering from autistic disorder were born in Sweden to mothers born in Uganda. Two were related but the third boy was unrelated to the others. The prevalence for autistic disorder in Goteborg children born to mothers who were born in Uganda was 15% which is almost 200 times higher than in the general population of children. The possible reason for the high autism rate in this particular ethnic subgroup is discussed.
The use of anti‐psychotic drugs with adults with learning disabilities and challenging behaviour
Authors: Kiernan C. , Reeves D. , Alborz A.
Published: July 2010

The use of anti‐psychotic medication with an adult population of people with learning disabilities and challenging behaviours was investigated as part of an epidemiological study covering seven district health authorities and corresponding local authorities in North West England. The study found a high rate of prescription of anti‐psychotic drugs (48·1%). Chlorpromazine was the most frequently prescribed drug, followed by Thiorid a zineand Hal of eri‐dol. Three variables, psychiatric diagnosis, where the person was resident (hospital disturbed ward, hospital non‐disturbed ward, hostel or family home) and district of origin were found to be significant determinants of prescriptions when all other variables were controlled. Of the variables reflecting individual characteristics those significantly related to prescription suggested that the socially disruptive effects of challenging behaviour were determining prescription. The results are discussed in the context of differing prescription practices across residence and district in the context of the management of socially disruptive behaviour.
The dexamethasone suppression test and the diagnosis of depression in adults with severe and profound developmental disabilities
Authors: Mudford O. C , Barrera F. J. , Murray A. , Boundy K. , Caldwell K. , Goldberg B.
Published: July 2010

The dexamethasone suppression test (DST) was administered to 40 adults with severe and profound mental retardation. All participants were free from known conditions which may have given misleading results from cortisol assay. Of nine participants who showed symptoms possibly indicating depression the DST results concurred in two cases (i.e. there were two true‐positives). However there were four or five (depending on criteria adopted) false‐positive DST results. There did not appear to be a consistent behavioural profile for positive DST responders. With sensitivity to possible depression estimated at 22%, and a diagnostic confidence of <35%, these data do not support recommendations that the DST is useful for assisting in diagnosis of depression in this population.
The Behavior Problem Inventory: a further replication of its factor structure
Authors: Sturmey P. , Sevin J. A. , Williams D. E.
Published: July 2010

The Behavior Problem Inventory was administered to a random sample of people living in a state school. The scores from all items and from self‐injury items only were factor analysed. The three scales of the Behavior Problem Inventory were highly internally consistent. Factor analysis of all the items showed some similarities to previous studies, and factor analysis of the self‐injury items showed a very close correspondence to two previous studies. The results are discussed in terms of the design of this instrument, the possible multi‐factorial nature of self‐injury and future research on the design of measures of assessments of maladaptive behaviours in people with developmental disabilities.
The prescribing of neuroleptic drugs for people with learning disabilities living in Leicestershire
Authors: Branford D. , Collacott R. A. , Thorp C.
Published: July 2010

Neuroleptics are prescribed for 23% of individuals with learning disabilities resident in Leicestershire, England. The rate of neuroleptic prescription is significantly higher in individuals resident in N.H.S. facilities (44%) than in non‐N.H.S. managed connmunlty facilities (13%). Significantly higher doses of neuroleptics are prescribed to individuals resident in N.H.S. facilities. However, ratings for the level of behavioural disturbance were significantly higher in N.H.S. facilities. The decision to prescribe neuroleptics was associated with disturbed behaviour, and higher doses of neuroleptic medication prescribed were associated with more disturbed behaviour.
Age‐specific standardized mortality rates in people with learning disability
Authors: McGuigan S. M. , Hollins S. , Attard M.
Published: July 2010

The aim of the present study was to calculate the ageand sex‐specific standardized mortality ratios (SMRs) in two populations of people with learning disability (LD). These populations included people living in institutions and community settings. It was found that SMRs tended to be raised for both males and females in each population, but SMRs do not always significantly differ from unity. For the combined Register populations, SMRs are generally significantly greater than unity. We conclude that these data provide evidence that death rates for people with LD are often higher than in the general population.
Short‐term memory in persons with intellectual disabilities and Down's syndrome
Authors: Vicari S. , Carlesimo A. , Caltagirone C.
Published: July 2010

The present study was designed to investigate verbal and spatial short‐term memory abilities in persons with Down's syndrome (DS) and intellectual disability (ID) of different aetiology. For this purpose, we compared performances of DS (n= 15; mean mental age=5.2 years; SD= 1.2 years; mean chronological age= 16.6 years; SD=2.9 years) and ID subjects (n= 14; mean mental age=5.8 years; SD=2.I years; mean chronological age= 16.4 years; SD=2.5 years) with those of normally developed subjects matched for mental age (n=24) on tasks of forward and backward immediate recall of verbal and spatial sequences. Our results are discussed in the light of the Working Memory model developed by Baddeley (1986, 1990). Altogether, our data documents a deficit of verbal and spatial backward spans in persons with DS. The deficit seems to be specific for this particular aetiology group, confirming the hypothesis that ID is not a uniform condition, characterized by an undifferentiated delay of the cognitive development, but rather that it is characterized by a deficit in a complex cognitive system in which some cognitive abilities can be disrupted more than others (Detterman 1987; Vicari et al. 1992).
Molecular genetic analysis of mentally retarded males with features of the fragile‐X syndrome
Authors: Butler M. G. , Pratesi R. , Vnencak‐Jones C. L.
Published: July 2010

The fragile‐X [fra(X)] or Martin‐Bell syndrome is the most common familial cause of mental retardation and is characterized by the presence of an Xq27.3 chromosome fragile site. Unstable DNA sequences representing large increases in the number of CGG trinucleotide DNA base repeats of the FMR‐1 gene are located at the fragile site and responsible for the fra(X) syndrome. In order to identify whether cytogenetically normal yet mentally retarded males without 3 known cause of their retardation had expansion of the CGG repeat segment of the FMR‐1 gene, molecular genetic studies using Southern hybridization were Performed with two DNA probes (fxa24l and Ox1.9) following digestion of genomic DNA from each patient with restriction enzymes PstI and EcoRI/EagI, respectively. DNA studies were performed on 20 (12.3%) out of 162 (122 white and 40 black people) cytogenetically normal mentally retarded males without a known cause of their retardation, but with high anthropometric discriminant values and/or clinical checklist scores identified previously and consistent with the fra(X) syndrome. None of the 20 males showed expansion of the CGG repeat of the FMR‐1 gene detectable with the two probes used in this study. While heterogeneous single base pair substitutions, or small deletions or insertions in the FMR‐1 gene could exist in our patients, aberrations in other X‐tinked mental retardation genes, not identified to date but whose gene product can produce a phenotype similar to fra(X), either independently or in conjunction with the recently identified FMR‐1 protein, should be considered and are under investigation. Our study supports the idea that major FMR‐1 gene expansion detectable with Southern hybridization is rare in cytogenetically normal mentally retarded males, including those with physical and behavioural features seen in the fra(X) syndrome.
Adaptation to group home living for adults with mental retardation as a function of previous residential placement
Authors: Maisto A. A. , Hughes E.
Published: July 2010

Changes in adaptive fianctioning subsequent to a group home placement was assessed for deinstitutionalized and previously non‐institudonalized adults with mental retardation. Results indicated that both groups experienced a significant increase in overall adaptive functioning subsequent to group home placement. The results also indicated that neither group experienced a significantly greater increase in adaptive behaviour compared to the other. Additionally, it was found that the deinstitutionalized group functioned at a higher adaptive level overall than did the previously non‐institudonalized group. These results are consistent with previous research regarding the benefits of a group home placement on deinstitudonalized individuals. This research extends previous research by demonstradng that group home placements also have a signi‐ficant impact on the adapdve behaviour of previously non‐institudonalized individuals.
Medical aspects of ageing in a population with intellectual disability: II. Hearing impairment
Authors: Evenhuis H. M.
Published: July 2010

Hearing function of an institutionalized population with intellectual disability, consisting of 70 subjects with a mean age of 70.1 (range 60–92) years at initial evaluation, was assessed during a 10‐year longitudinal study. One subject had Down's syndrome and could not be assessed as a result of dementia. The total prevalence of mild to severe hearing loss (33.3% in the 60–70 age group and 70.4% in those over age 70) was comparable to reported data from an ageing populadon without intellectual disability in the United Kingdom (37%, respectively 60%), However, the proportion of moderate to severe losses might be higher (16.7%vs. 7% in the 60–70 age group and 33.3%vs. 18% in the older age group). Excess impairment was caused by severe congenital and childhood hearing impairment on one hand, and by conductive losses, probably caused by unrecognized chronic middle ear infections, superposed upon presbyacusis, on the other. Impacted ear wax was also a major problem. The incidence of new cases with hearing loss during follow‐up was 50%, After individual habituation training hearing aids were used without difiFiculdes by 20 out of 24 subjects. The importance of acdve screening and treatment of middle ear infections and hearing impairment from a young age
Sexual knowledge interview schedule: reliability
Authors: Forchuk C. , Martin M.‐L. , Griffiths M.
Published: July 2010

The Sexual Knowledge Interview Schedule (SKIS) is a 46‐item interview schedule with an abuse scale and knowledge scale. The knowledge scale includes feelings, body parts identification, body parts function and general sexual knowledge. The reliability of the SKIS is reported. Internal consistency for scales/subscales ranges from 0.78 to 0.96, Inter‐rater reliability was 95.3% agreement and test‐retest reliability was 70.1%
Providing intensive community support to people with learning disabilities and challenging behaviour: a preliminary analysis of outcomes and costs
Authors: Allen D. , Lowe K.
Published: July 2010

The impact of a specialist community service on the lives of three people with challenging behaviour was assessed using single‐case studies. The outcome measures employed recorded changes in adaptive behaviours, challenging behaviours and staff sadsfaction with the interventions used. Improvements on the behavioural measures were observed for each client, and positive feedback was received from each of the staff groups concerned. The costs of providing these interventions in community settings were calculated and compared to the costs of alternative service options.
Long‐term survival in the Wolf–Hirschhorn (4p‐) syndrome
Authors: Smith S. A. , Walker A. M. , Monk A. J. , Young I. D.
Published: July 2010

The clinical features of Wolf‐Hirschhom syndrome are described in a 29‐year‐old woman who shows severe retardation of growth and development. It is important for health care professionals involved with families in which this condition is present to realize that long‐term survival may occur.
BIOMED‐MEROPE* project: service provision for adults with intellectual disability: a European comparison
Authors: Holt G. , Costello H. , Bouras N. , Diareme S. , Hillery J. , Moss S. , Rodriguez‐Blazquez C. , Salvador L. , Tsiantis J. , Weber G. , Dimitrakaki C.
Published: July 2010

The aim of the present paper is to describe and compare services for adults with intellectual disability (ID) and mental health needs in five European countries: Austria, England, Greece, Ireland and Spain. A framework and structure for collecting information about service provision was designed. This information was collected through a mixture of interviews with service providers, questionnaires and a review of the research literature within each country. Information was collected on historical context, policy, legislation, assessment, treatment and the structure of services for people with ID and mental health problems. Overall, the needs of those with additional mental health needs have not been specifically addressed at a national level with perhaps the exception of England and Ireland, although there are still gaps in services in these nations. Normalization has been adopted in each of the five countries, and there are moves toward deinstitutionalization, integration and inclusion. Families and self‐advocacy groups have grown. The pace of this change varies between and even within countries. The main findings of the study include: unclear policy, trends for legislative changes, increased prevalence of mental health problems, inadequate generic service provision, a need for specialist mental health services, a need for improved interconnections of services, and a need for training developments. Policy and legislation in the five European countries under consideration tend to separate the disability aspects of people with ID from their mental health needs. Consequently, the service needs of this group remain largely invisible. This might be a direct reflection of policy clarity and legislation, or could be the result of a failure to implement existing guidelines. This has a detrimental effect on the lives of people with ID, and their families and carers.
The prevalence of features of attention deficit hyperactivity disorder in a special school in Ireland
Authors: Buckley S. , Hillery J. , Guerin S. , McEvoy J. , Dodd P.
Published: July 2010

Background  The prevalence of features of attention deficit hyperactivity disorder (ADHD) in children with intellectual disabilities (ID) in Irish schools is unknown. The aim of this study was to examine the prevalence of features of ADHD in a special school, in order to ascertain the number of children who may need further assessment for ADHD. The study also explores the reliability of the Conners Teachers Rating Scale in this population.

Method  All teachers in a special school for children with ID were asked to complete the Conners Teachers Rating Scale and the Attention‐Distractibility, Inhibition–Excitation Classroom Assessment Rating Scale, for those children whose parents had consented for them to take part in this study. Consent was obtained for 84 children a response rate of 71%, between the ages of 5 and 18 (mean = 10.5 years; SD = 3.7).

Results  The Conners Teachers Rating Scale was found to be internally reliable and had a normal distribution with our results. Overall, 55.9% of participants (47/84) had markedly elevated scores (T > 69) for at least one of the target subscales, which were the ‘Hyperactivity’, ‘Inattention’ and the ‘ADHD Index’ subscales of the Conners Teachers Rating Scales. In addition, the findings would suggest that the Conners Teachers Rating Scale can be a useful screening tool in the population of school children with ID.

Conclusions  The study suggests that ADHD may be under diagnosed in children with ID. This has practical implications for the mental health needs of these children. It is recommended that further studies are carried out to determine the prevalence of ADHD in this population.
Quality of master impressions and related materials for fabrication of complete dentures in the UK1
Authors: AL‐AHMAR A. O. , LYNCH C. D. , LOCKE M. , YOUNGSON C. C.
Published: July 2010

Summary  The aim of this study was to examine the quality of master impressions and related materials for fabricating complete dentures in the UK. One hundred and fifty pre‐piloted questionnaires were distributed to a number of dental laboratories in the UK with large catchment areas. Information requested related to the quality and choice of techniques for the master impression stage of fabricating complete dentures, as well as prescription of materials for occlusal registration, amongst others. All information was recorded anonymously. One hundred and forty‐four completed questionnaires were returned. All items were provided on a private basis. Eighty‐three per cent (n = 119) of master impressions were made using a custom tray, the remainder were made using a plastic stock tray. The most commonly used impression material was zinc oxide‐eugenol (42%, n = 60), followed by polyvinylsiloxane (39%, n = 56) and irreversible hydrocolloid (19%, n = 28). Master casts were poured after a minimum of 4 days. Eleven per cent of impressions examined (n = 16) were judged to have errors. It was reported that 64% of master impressions (n = 92) examined had been disinfected adequately. While this study revealed evidence of good clinical practice, particularly in relation to the selection of impression trays and quality of master impressions for complete dentures, there were some areas of concern, particularly in relation to the disinfection of the impressions examined. Dental practitioners should aim to provide their patients with high‐quality prostheses by observing best clinical practice at all times.
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
Authors: Fradin M , Stoetzel C , Muller J , Koob M , Christmann D , Debry C , Kohler M , Isnard M , Astruc D , Desprez P , Zorres C , Flori E , Dollfus H , Doray B
Published: July 2010

Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, Kohler M, Isnard M, Astruc D, Desprez P, Zorres C, Flori E, Dollfus H, Doray B. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene. FAM20C codes for the human homolog of DMP4, a dentin matrix protein highly expressed in odontoblasts and moderately in bone. DMP4 is probably playing a role in the mineralization process. Since the first case reported in 1989 by Raine et al. 21 cases have been published delineating a phenotype which associates dysmorphic features, cerebral calcifications, choanal atresia or stenosis and thoracic/pulmonary hypoplasia. Kan and Kozlowski suggested the name of Raine syndrome to describe this new lethal osteosclerotic bone dysplasia. All the cases described were lethal during the neonatal period except for the last two reported patients aged 8 and 11 years who presented severe mental retardation. Here we describe two sisters, with an attenuated phenotype of Raine syndrome, who present an unexpectedly normal psychomotor development at ages 4 and 1, respectively. Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype. This case report also prompted us to revisit the FAM20 gene classification and allowed us to highlight the ancestral status of Fam20C.
Analysis of HL‐A Incompatibility in Human Renal Transplants
Authors: MICKEY M. R. , KREISLER M. , ALBERT E. D. , TANAKA N. , TERASAKI P. I.
Published: July 2010

The matching criteria of counting the number of HL‐A incompatibilities, the number of compatible antigens, and of ratios (net histocompatibility ratio) were evaluated. In order to avoid bias, the data were analyzed with the aid of computers, taking many different cutoff points. The probability value of statistical significance can be shown to vary considerably depending on the time selected for evaluating the clinical ranks and the clinical ranks which are considered to be “successful” or “failure.” Overall, the data indicate that because of the large number of patients who do well in spite of incompatibility, a more suitable means by which successful transplants can be predicted will be required. Since HL‐A antigens are still the primary transplantation antigens (as shown by the successful HL‐A‐identical sibling transplants), empiric knowledge on the types of incompatibilities which can result in good graft survival must be developed.
HL‐A Types in Danish Eskimos from Greenland
Authors: KISSMEYER‐NIELSEN F. , ANDERSEN H. , HAUGE M. , KJERBYE KAREN E. , MOGENSEN B. , SVEJGAARD A.
Published: July 2010

HL‐A typing of 110 Danish Eskimos has shown a marked difference in the frequencies of some HL‐A antigens as compared to Danish Caucasians.

The most striking finding was a high frequency of HL‐A9, Ba*(W28), HL‐A5, BB (W10), and FJH(W27). There was a low frequency of HL‐A1, Li(<W19), HL‐A7, HL‐A8, and HL‐A12. This must result in a rather high chance for occurrence of the same HL‐A haplotypes in Eskimo matings, and the importance of this in relation to the high frequency of trophoblastic lesions among Eskimos is discussed.
The Recombination Fraction of the HL‐A System
Authors: SVEJGAARD A. , BRATLIE A. , HEDIN P. J. , HÖGMAN C. , JERSILD C. , KISSMEYER‐NIELSEN F. , LINDBLOM B. , LINDHOLM A. , LÖW B. , MESSETER L. , MÖLLER E. , SANDBERG L. , STAUB‐NIELSEN L. , THORSBY E.
Published: July 2010

By collecting all the family material available in the seven Danish, Norwegian, and Swedish centres typing for Scandiatransplant, we found 309 families which yielded information on linkage between the first and second segregant series of the HL‐A transplantation system. Information was obtained on 1,362 parental meiotic divisions and recombination has occurred in 11 cases which gives a recombination fraction of 0.0081 with 95% confidence limits of 0.0041–0.0148. The maternal recombination frequency (0.0099) was higher than the paternal one (0.0061), but the difference did not reach statistical significance. Most of the recombinant children belonged to the last half of their sibship.
HL‐A Antigens and Susceptibility to Diseases: A Study of Patients with Acute Lymphoblastic Leukaemia, Hodgkin's Disease, and Childhood Asthma
Authors: THORSBY E. , ENGESET A. , LIE S. O.
Published: July 2010

Twenty‐eight children with acute lymphoblastic leukaemia (ALL), 39 patients with Hodgkin's disease (HD), and 35 patients with childhood asthma were HL—A typed. The results indicate an increased frequency of the haplotypes HL—A2,12 and HL—A1,8 in ALL, the antigen HL—A5 in HD, and the haplotype HL—A1,8 in asthmatic children. Other evidence also indicates that a special immune responsiveness may be associated with the latter haplotype.
The Micro‐Complement‐Fixation Test: III. Automatic Quantitative Scoring with a Microscope Densitometer
Authors: AMARO J.D. , HENSEN E. , VAN ROOD J. J.
Published: July 2010

The quantitative nature of complement‐fixation has been its best characteristic. Little advantage has been taken of this characteristic because of the laborious nature of the procedure. This plus the scarcity of good antisera has limited its application in histocompatibility testing. Both disadvantages have now been overcome. Micro‐complement‐fixation has become a reality and the simple procedure has already been standardized internationally. The very facility of the procedure led to the development of a system for automatically scoring its results: the microscope densitometer. The ability of this system to precisely quantitate microcomplement‐fixation tests has been demonstrated. Future applications in histocompatibility testing and in other fields where complement‐fixation tests are used are outlined.
The Distribution of HL—A Leukocyte Antigens in Singapore Chinese, Malays, and Indians
Authors: TING A. , WEE G. B. , SIMONS M. J. , MORRIS P. J.
Published: July 2010

The distribution of 19 HL—A antigens was studied in three ethnic groups in Singapore: Chinese, Malays, and Indians. Two antigens (one from each HL—A locus) were found to be significantly more frequent in each ethnic group when compared to the other two ethnic groups. These antigens were HL—A11 and W10 in Chinese, HL—A9 and W15 in Malays, and HL—A1 and W17 in Indians. The antigens HL—A10, HL—A8, and W14 had a low frequency in the three ethnic groups. The virtual absence of HL—A1 in Chinese, low frequency in Malays, and high frequency in Indians support the suggestion that this antigen is a “Caucasian” antigen.

The presence of linkage disequilibrium between the two HL—A loci was investigated by the calculation of delta values. No significant delta values were found in the Malays whereas the Chinese and Indians showed significant values for the antigen combinations HL—A2.12, HL—A9.5, HL—A9.W17, HL—A11.W15 (Chinese) and HL—A1.W17, HL—A2.W17, HL—A3.W5 (Indians).

It is suggested that the HL—A system of leukocyte antigens should be an important genetic marker in the study of origins and relationships between ethnic groups.
Transplantation Antigens and Malignant Lymphomas in Man: Follicular Lymphoma, Reticulum Cell Sarcoma and Lymphosarcoma
Authors: FORBES JOHN F. , MORRIS PETER J.
Published: July 2010

134 patients with malignant lymphoma (follicular lymphoma, 56 patients; lymphosarcoma, 50 patients; reticulum cell sarcoma, 28 patients) have been typed for eight well‐defined antigens of the HL—A system, the major histocompatibility system in man. A significant association exists between HL—A12 and this disease group. This is most marked for the patients with follicular lymphoma. The significance of this finding is discussed.
The Mo91 Antigen, an Allele at the First HL‐A Locus
Authors: SEIGNALET JEAN
Published: July 2010

Mo91 is an antigen “intermediate” between HL‐A10 and HL‐A11 which is defined by the coexisting positivities of several apparently monospecific anti‐HL‐A10 and anti‐HL‐A11 sera. Mo91 cells completely absorb the antibodies contained in these anti‐HL‐A10 and anti‐HL‐A11 sera. Family investigations show that Mo91 is controlled by an allele at the first HL‐A locus.

There are probably other intermediate antigens in the HL‐A system. Their constitution is discussed. Are they distinct from two classic antigens, and linked by a strong cross reaction with these two antigens? Are they double antigens governed by single genes, that may be called “bispecific alleles”
Detection of Alloantibodies Using a Sensitive Antiglobulin Microcytotoxicity Test: Identification of Low Levels of Pre‐Formed Antibodies in Accelerated Allograft Rejection
Authors: JOHNSON ARMEAD H. , ROSSEN ROGER D. , BUTLER WILLIAM T.
Published: July 2010

An antiglobulin test, more sensitive than established direct microcytotoxicity tests, was developed to detect both complement fixing and non‐complement fixing alloantibodies. The test has been used to detect antibodies in sera from selected organ allograft recipients. Of 56 sera tested by the antiglobulin method, 52 (93%) were reactive. In contrast, only 13 (23%) were reactive in an established direct microcytotoxicity test and only 28 (50%) were reactive in a modification of the direct test in which the incubation times were doubled. Sera obtained prior to transplantation from 3 patients who experienced either immediate or early rejection of their renal allografts contained antibodies detected by the antiglobulin test but not by direct microcytotoxicity tests against lymphocytes from a panel of unrelated, normal individuals. In addition, the antiglobulin test has been used to demonstrate that the humoral antibody response following transplantation of cardiac and renal allografts is heterogeneous with respect to formation of antibodies of the IgA, IgG and IgM classes.
Histocompatibility in the Rabbi Identification of the Major Locus12
Authors: TISSOT ROBERT G. , COHEN CARL
Published: July 2010

Cytotoxic antisera were produced either by skin graft exchange between related rabbits from the same partially inbred line or by graft exchange between rabbits from different inbreeding lines. By pedigree analysis and correlation with known antisera, these antisera were all shown to detect antigens controlled by a single locus. This locus has been assigned the symbol RL‐A. Skin grafts between siblings incompatible for the RL‐A were all rejected within twelve days, and graft survival time could not be prolonged with relatively mild immunosuppressive treatment with 6‐mercaptopurine. However, a significant number of grafts compatible for the RL‐A locus were maintained for twelve days or longer and graft survival time of compatible grafts could be significantly prolonged with mild immunosuppression, suggesting that the RL‐A locus is the major histocompatibility locus of the rabbit.
The Distribution of the HL‐A Antigens and Genes in a German Population
Authors: MENZEL GERD R. , RICHTER KLAUS V.
Published: July 2010

The frequency of HL‐A antigens and genes was determined in a population of 600 unrelated German people. The results confirmed the two loci concept for the HL‐A system, and showed that the gene frequencies, the phenotype distributions and the haplotype frequencies are very similar to those observed in other Caucasian populations.
HL‐A Antigens and Acute Lymphocytic Leukemia: The Nature of the HL‐A2 Association
Authors: Rogentine G. N. , Trapani R. J. , Yankee R. A. , Henderson E. S.
Published: July 2010

Beginning in 1969, HL–A antigens were determined for 85 Caucasian patients with acute lymphocytic leukemia (ALL). HL–A2 was the only antigen significantly different from a normal racial control group. It was present in 65 % of patients as compared to 44% of the controls (P .005). Fifty‐three of the 85 patients were diagnosed between 1969 and 1971 and were typed soon after admission. Their HL–A antigen frequencies were normal. The other 32 patients had been diagnosed previously (1962–1968), and thus were survivors at the time of typing. Their HL–A2 frequency was 84%. The frequency of HL–A2 in patients surviving 1500 days or more was 83%. The combined frequency of HL–A2, the known related specificity W28 and the possibly related HL–A9 in these long‐term survivors was 94%. These data suggest that HL–A2 (and possibly HL–A9 and W28) is not associated with disease susceptibility, as was previously thought, but rather confers a form of resistance to ALL. This hypothesis can be tested best by a large scale prospective study.
Paraformaldehyde Fixation of Mouse Cells with Preservation of Antibody‐Binding by the H‐2 Locus
Authors: Parr E. L. , Oei J. S.
Published: July 2010

We have studied the antibody binding capacity of mouse H–2 antigens after fixation with paraformaldehyde. Spleen cells and erythrocyte stroma fixed for one hour in 0.9% paraformaldehyde were found to bind anti‐H–2 antibodies to essentially the same extent as fresh material. Mouse macrophages fixed in this way were shown to be unable to pinocytose peroxidase. The fixation procedure described here should be useful in studies of the amount and distribution of H–2 antigens on mouse cells.
A New HL‐A Antigen at the LA Locus Positively Associated with the W14 (MaKi) Specificity of the FOUR Locus
Authors: Ferrara G. B. , Tosi R. M. , Azzolina G. , Carminati G.
Published: July 2010

The W14 (MaKi) specificity of the FOUR locus is positively associated with a previously unrecognized specificity of the LA locus, which is now provisionally called Fe 55.

Because of the similar and low frequency of the two antigens, the recognition of Fe 55 as a separate entity is very difficult.

It is possible that the same phenomenon is delaying the recognition of other “blanks'’ as well.
Weak Expression of the Antigen HL‐A2 in a German Family
Authors: Mayr W. R.
Published: July 2010

A German family showing a weak expression of the antigen HL–A2 is described. The results of the HL–A typing and of absorption experiments are mentioned, and the genetic background of this phenomenon is discussed.
Cross‐Reactions of Cattle Lymphocytotoxic Sera with HL‐A and Other Human Antigens1
Authors: Iha Thomas H. , Gerbrandt Grace , Bodmer Walter F. , Mcgary Danny , Stone William H.
Published: July 2010

Cattle alloimmune sera produced against whole blood and isolated leucocytes were cytotoxic to human lymphocytes. After absorption with human erythrocytes, some antisera exhibited differential cytotoxicity on human lymphocytes. In addition, normal sera from parous cows also exhibited differential human lymphocytotoxicity, whereas those from heifers and bulls did not, indicating that antibodies were probably produced by foetal‐maternal alloimmunization as in multi‐parous women. Most of the activity of the cattle sera on human cells was associated with the HL–A system, though family studies indicated the possible existence of some non HL–A activity. The majority of the cattle serum reactions seemed to correspond to broadly cross‐reacting HL–A activities, associated especially with 4a and 4b. Some sera, however, showed considerable specificity. The results emphasize the possibility that nonprimate mammalian species might be useful for the production of HL–A and also perhaps non‐HL–A human lymphocytotoxic typing reagents.
Antibody‐Mediated Cell‐Dependent Immunity in Human Lymphocytes
Authors: Mcconnachie P. R. , Dossetor J. B.
Published: July 2010

A system is described which rapidly detects antibody‐mediated cell‐dependent immunity in multiparous women; their purified peripheral lymphocytes act as effector cells against 51Cr lymphocytes as targets, in the presence of specific antibody. Added complement was not required. The antibody can be detected in plasma, serum, and IgG preparations. The specific site of action of the antibody is primarily the target cell. Normal lymphocytes can be converted into effector cells. Antibodies demonstrated partial HL–A specificity and a high degree of sensitivity.