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Biomedical subjects

A Le Couteur

Publications and source records attributed to A Le Couteur.

At least 19 recordsLinked to original sources

Families in a state of flux: the experience of grandparents in autism spectrum disorder.

BACKGROUND: The experience of being a grandparent of a grandchild with autism spectrum disorder (ASD) is a previously under-researched area. This study sets out to examine the grandparents' own perspective in an exploratory way using a qualitative approach to answer the question, 'What is the experience like?' METHOD: A qualitative research project, using a purposive sampling technique and semi-structured interviews to examine the experiences of six grandparents of children with ASD diagnosed by a specialist team in a second opinion Tier 4 Child and Adolescent Mental Health Service. RESULTS: The experiences of the grandparents were characterized by three Key Themes which emerged from the interviews: (1) The Parental Bond (protective bonding towards grandchild and adult child); (2) Striving for Answers (searching for meaning); (3) Keeping Intact (holding the family together). CONCLUSION: The study suggests some interesting insights and confirms the need for more attention to this area. A key question raised by the study is how a child-focused multidisciplinary team can embrace its role in delivering a family-centred service. The clinical implications of this project have led to a change of practice in the specialist team. Further research would be appropriate to investigate the therapeutic effectiveness and cost effectiveness of involving grandparents as part of the assessment process.

Adolescent↗

Development and current functioning in adolescents with Asperger syndrome: a comparative study.

Adolescents with Asperger syndrome (AS: without delay in speech development, diagnosed according to ICD-10 clinical criteria) were compared with a group with high-functioning autism (HFA: all with delayed speech development), and a group with conduct disorder (CD). Family and genetic studies suggest that Asperger syndrome and autism form part of the same spectrum, whereas the social impairments in conduct disorder are assumed to have different origins. The aims were to explore the relationships between early speech development and other aspects of functioning in autistic disorders, and to compare autistic and nonautistic social impairments. Early and current behaviour and IQ profiles were investigated. The CD group were clearly different from both the AS and HFA groups. The AS group tended to have less severe early behavioural abnormalities than the HFA group, and were unlikely to have speech abnormalities, but other communicative, social, and restricted/ stereotyped behavioural difficulties were largely of a similar pattern to the abnormalities in the HFA group. Eighty per cent of the AS group met criteria for autism on the diagnostic algorithm associated with the Autism Diagnostic Interview-Revised. By adolescence, the AS group were reported to be as abnormal as the HFA group but in structured 1:1 interaction their conversation was better. IQ profile in the AS group showed relative strength on verbal measures, unlike the HFA group, but relatively good performance on the Block Design subtest of the WISC/WAIS was a feature of both the AS and HFA groups. The results indicate closely similar behavioural manifestations may arise by adolescence despite differences in speech development. Follow-up studies and further family investigations will be required to clarify the origins of these and other patterns of autistic development.

Adolescent↗

Behavioural psychopathology of child sexual abuse in schoolgirls referred to a tertiary centre: a North London study.

The sexually abused girls in this study were a sub-sample of a group of girls referred to a Regional Centre for Psychotherapy for the whole of London, North Thames. An inclusion criterion was that they were psychologically symptomatic and so it is likely that they were more problematic cases causing concern in their locality. The control clinical group consisted of referrals to local Child and Family consultation services, were an opt-in matched sample and not a total clinic referral sample. In addition, the reasons for referral covered both child disorder and family problems. It is, therefore, important to bear in mind the differences between these two groups. Certain clear cut findings have emerged from this study. No disorders specific to child sexual abuse in girls were identified but the extent and severity of the disturbance in the sexually abused sample was most striking. In these girls an event (CSA), together with referral because of emotional symptoms, was associated with enhanced severity of disorder and comorbidity particularly with reference to a cluster of disorders comprising post-traumatic stress disorder, depressive disorder, anxiety disorders (general and separation), social phobias and reactive attachment disorder. In the community clinic sample the identified disorders were mainly those of separation anxiety disorders and adjustment. Wide comorbidity was common in the sexual abuse sample and also severity of impairment was notable when compared to the clinic sample. However, because of the selected nature of the abuse group the findings are not generalisable beyond the population from which they emerged. The view is advanced that there are strong grounds for exploring the utility of psychodynamic psychotherapy in similar samples of sexually abused girls. These findings are discussed in the light of the current literature.

Adolescent↗

Autism: the phenotype in relatives.

There is broad agreement that genetic influences are central in the development of idiopathic autism. Whether relatives manifest genetically related milder phenotypes, and if so how these relate to autism proper, has proved a more contentious issue. A review of the relevant studies indicates that relatives are sometimes affected by difficulties that appear conceptually related to autistic behaviors. These range in severity from pervasive developmental disorders to abnormalities in only one area of functioning, and possibly extend to related personality traits. Issues involved in clarifying the components of milder phenotypes and their relationship to autism are outlined.

Autistic Disorder↗

Head circumference in autism and other pervasive developmental disorders.

Recent studies have found that an unexpectedly large proportion of autistic children have large heads. Anthropometric measures of consecutive clinic attenders with pervasive developmental disorder (PDD), other psychiatric or language disorders were analysed. Similar data were obtained from two schools for language disordered children. These data, combined with those from previous studies, indicate that about one-third of children with PDD have macrocephaly based on current percentile charts; this rate was significantly higher than in children with language disorder alone. The finding was not a consequence of recognizable medical disorders and suggests that PDD is sometimes associated with abnormal physical development.

Anthropometry↗

A broader phenotype of autism: the clinical spectrum in twins.

The diagnostic boundaries of the behavioural phenotype for autism were examined in 28 MZ pairs and 20 DZ same-sex twin pairs, where one or both twins had autism. In the non-autistic cotwin (i.e. in twin pairs discordant for autism) it was common to find language impairments in childhood and social deficits persisting into adulthood. Concordance for this broader phenotype was much greater in MZ pairs than DZ pairs, indicating a strong genetic component. Behavioural and cognitive manifestations of autism were compared both within and between MZ twin pairs. The variation was as great within MZ twin pairs as between pairs, suggesting that it does not index genetic heterogeneity (although aetiological heterogeneity probably exists). Current diagnostic practices need re-evaluation.

Activities of Daily Living↗

Autism as a strongly genetic disorder: evidence from a British twin study.

Two previous epidemiological studies of autistic twins suggested that autism was predominantly genetically determined, although the findings with regard to a broader phenotype of cognitive, and possibly social, abnormalities were contradictory. Obstetric and perinatal hazards were also invoked as environmentally determined aetiological factors. The first British twin sample has been re-examined and a second total population sample of autistic twins recruited. In the combined sample 60% of monozygotic (MZ) pairs were concordant for autism versus no dizygotic (DZ) pairs; 92% of MZ pairs were concordant for a broader spectrum of related cognitive or social abnormalities versus 10% of DZ pairs. The findings indicate that autism is under a high degree of genetic control and suggest the involvement of multiple genetic loci. Obstetric hazards usually appear to be consequences of genetically influenced abnormal development, rather than independent aetiological factors. Few new cases had possible medical aetiologies, refuting claims that recognized disorders are common aetiological influences.

Abnormalities, Multiple↗

Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism.

The use of the family history method to examine the pattern of recurrence risks for complex disorders such as autism is not straightforward. Problems such as uncertain phenotypic definition, unreliable measurement with increased error rates for more distant relatives, and selection due to reduced fertility all complicate the estimation of risk ratios. Using data from a recent family history study of autism, and a similar study of twins, this paper shows how a latent-class approach can be used to tackle these problems. New findings are presented supporting a multiple-locus model of inheritance, with three loci giving the best fit.

Autistic Disorder↗

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders.

Describes the Autism Diagnostic Interview-Revised (ADI-R), a revision of the Autism Diagnostic Interview, a semistructured, investigator-based interview for caregivers of children and adults for whom autism or pervasive developmental disorders is a possible diagnosis. The revised interview has been reorganized, shortened, modified to be appropriate for children with mental ages from about 18 months into adulthood and linked to ICD-10 and DSM-IV criteria. Psychometric data are presented for a sample of preschool children.

Algorithms↗

Autism and known medical conditions: myth and substance.

There is general agreement that autism has an organic basis but there is less agreement on the frequency with which it is associated with known medical conditions. The evidence in the literature on the latter point is reviewed and it is concluded that the rate of known medical conditions in autism is probably about 10%; however the rate appears to be higher in cases of autism associated with profound mental retardation and in cases of atypical autism.

Autistic Disorder↗

Prevalence of the fragile X anomaly amongst autistic twins and singletons.

Early screening studies of autistic individuals suggested that up to one-quarter of cases were associated with the Fragile X anomaly. Recent studies find that the usual behavioural phenotype of the Fragile X anomaly is distinct from autism as usually defined, and that a variety of methodological factors contribute to the variability of the prevalence estimates. We report the prevalence of the Fragile X anomaly, using strict cytogenetic criteria, in a large sample of autistic individuals whose diagnosis was confirmed using a standardised diagnostic instrument. The anomaly was detected in 1.6% of tested autistic individuals from a combined sample of: autistic twins; clinic attenders; and, individuals from families multiplex for autism or related cognitive phenotypes. The anomaly was not detected in greater than 2.5% of any of the constituent samples and accounted for only a small proportion of the genetic influences amongst concordant twins and multiplex families. The anomaly was detected in 5% of the 40 tested autistic females, confirming reports that the prevalence of the anomaly is similar amongst autistic individuals of both sexes.

Adult↗

Autism: current understanding and management.

Autism is now generally considered to be an organic neurodevelopmental disorder. This review considers the current understanding of genetic factors and associated medical conditions, together with a discussion of some aspects of management and treatment of affected children and adolescents.

Adolescent↗

Autism diagnostic interview: a standardized investigator-based instrument.

The development of a new standardized investigator-based interview for use in the differential diagnosis of pervasive developmental disorders is described, together with a diagnostic algorithm (using ICD-10 criteria) based on its use. Good interrater reliability for algorithm items was shown between four raters, two in Canada and two in the UK, who rated 32 videotaped interviews. The items also significantly discriminated between 16 autistic and 16 nonautistic mentally handicapped subjects. The algorithm based on ICD-10 identified all 16 autistic individuals and none of the 16 nonautistic subjects.

Adolescent↗

Infantile autism and urinary excretion of peptides and protein-associated peptide complexes.

Sixty-nine early morning urine samples obtained from three groups of young adult males (autistic, mentally handicapped, and a group of men of normal intelligence) were analyzed using the methods described by Trygstad et al. (1980). No consistent patterns of urinary chromatographic profiles were identified. A number of possible contributing factors are discussed in relation to this failure to replicate the results of previous studies.

Adult↗