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Biomedical subjects

M Rutter

Publications and source records attributed to M Rutter.

At least 91 records · Page 5Linked to original sources

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↗

Genetic and environmental influences on the covariation between hyperactivity and conduct disturbance in juvenile twins.

Structural equation models were applied to the maternal ratings of 265 MZ and 163 DZ male-male, 347 MZ and 160 DZ female-female, and 262 male-female twin pairs, aged 8-16 years, who participated in the Virginia Twin Study of Adolescent Behavioral Development (VTSABD). Substantial additive genetic influences and contrast effects were found for hyperactivity, and additive genetic and shared environmental effects or positive comparison effects (particularly for the girls) for oppositional/ conduct disturbance. Bivariate model fitting showed that the covariation between hyperactivity and oppositional/conduct problems in both younger and older boys and girls is almost entirely attributable to genetic factors. However, whereas in the younger males and females the same set of genes explain all the variation in hyperactivity and conduct disturbance, in the older cohort at least some of the genetic effects are behavior- and gender-specific.

Adolescent↗

A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig.

A complete overlapping clone map of a 1.7-Mb region from DBH to D9S67 that includes the TSC1 candidate region has been constructed. The map includes YAC and cosmid clones, contains STS approximately every 50 kb on average, and establishes the order of five previously unordered loci. The overall physical length of this segment of chromosome 9q34 (1.7 Mb) is significantly less than expected compared to its estimated genetic length (approximately 10 cM). Consequently, the physical length of the TSC1 candidate region is substantially less than predicted by a genetic distance of approximately 2 cM.

Base Sequence↗

The pre-linguistic autism diagnostic observation schedule.

The Pre-Linguistic Autism Diagnostic Observation Schedule (PL-ADOS) is a semistructured observation scale designed for use as a diagnostic tool for children less than 6 years old who are not yet using phrase speech and are suspected of having autism. The PL-ADOS takes approximately 30 minutes to administer and is appropriate for use with this population because of its emphasis on playful interactions and the use of toys designed for young children. Reliability studies indicated that both individual activity ratings and summary ratings could be reliably scored from videotaped assessments by naive raters. Additionally, PL-ADOS scores of nonverbal preschool-aged children referred for clinical diagnosis and classified on the basis of a diagnostic team's clinical judgment, clearly discriminated between autistic and nonautistic developmentally disabled children. The resulting diagnostic algorithm is theoretically linked to diagnostic constructs associated with ICD-10 and DSM-IV criteria for autism.

Autistic Disorder↗

Multiple raters of disruptive child behavior: using a genetic strategy to examine shared views and bias.

Most research on child behavior incorporates information from different individuals. While agreement between informants is generally only modest, there is little understanding of the processes underlying disagreement. In twin studies, differential agreement among raters for MZ and DZ twins is of particular concern. The processes underlying differences among mother, father, and child ratings of oppositional and conduct disorder symptoms are explored. Evidence in favor of a shared parental view of behavior is presented. Parental ratings give higher intrapair correlations, which could be due to either parents rating their twins more similarly or twins contrasting themselves. Rater bias and situational specificity are among the possible explanations of differential ratings. The effects of incorporating multiple raters of behavior on estimates of genetic and environmental effects are explored. These suggest that genetic influences are greater for the shared (multiple-rater) phenotype than for individual ratings; reduction in measurement error is only a partial explanation.

Adolescent↗

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↗

The Child and Adolescent Psychiatric Assessment (CAPA).

Great advances have been made during the last 20 years in the development of structured and semi-structured interviews for use with psychiatric patients. However, in the field of child and adolescent psychiatry there have been weaknesses in the specification and definition of both symptoms and the psychosocial impairments resulting from psychiatric disorder. Furthermore, most of the available interviews for use with children have been tied to a single diagnostic system (DSM-III, DSM-III-R, or ICD-9). This has meant that symptom coverage has been limited and nosological comparisons have been inhibited. The Child and Adolescent Psychiatric Assessment (CAPA) represents an attempt to remedy some of these shortcomings. This paper outlines the principles adopted in the CAPA to improve the standardization, reliability and meaningfulness of symptom and diagnostic ratings. The CAPA is an interviewer-based diagnostic interview with versions for use with children and their parents, focused on symptoms occurring during the preceding 3 month period, adapted for assessments in both clinical and epidemiological research.

Adolescent↗

Behaviour problems in childhood and stressors in early adult life. I. A 20 year follow-up of London school children.

The research presented in this paper examined the relationship between the presence of childhood behaviour problems and the rate of life events and difficulties in early adult life. Data are presented from a 20 year follow-up study of a sample of inner London school children first studied when they were aged 10. The key finding was that emotional or behavioural disturbance in childhood was associated with a marked increase in the rate of severely negative events and difficulties some two decades later. This increase was only obtained for stressors with severe negative impact of the type shown in previous investigation to be associated with the onset of psychiatric disorder. Additional results demonstrated that this main finding could not be accounted for by stressors that were a result of adult psychiatric disorder, by the respondent's own behaviour, or by continuing association with the family of origin. The need for a lifespan developmental approach to the well-established stressor-illness is discussed.

Adolescent↗

The Adult Personality Functioning Assessment (APFA): factors influencing agreement between subject and informant.

The Adult Personality Functioning Assessment (APFA) provides ratings of interpersonal and social role performance in six domains over substantial periods of time. Ratings based on subject and informant accounts using the APFA were compared. There was good agreement for estimates of levels of dysfunction, and moderate agreement for type of dysfunction. An anticipated under-reporting of difficulties by subjects was not found. The extent of personality dysfunction was predictive of whether a close informant was available; however, closeness of informant was not consistently associated with subject-informant agreement.

Adaptation, Psychological↗

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome.

Exon amplification has been applied to a 2.5 Mb region of chromosome 21 that has been associated with some features of Down syndrome (DS). Identification of the majority of genes from this region will facilitate the correlation of the over-expression of particular genes with specific phenotypes of DS. Over 100 gene fragments have been isolated from this 2.5 Mb segment. The exons have been characterized by sequence analysis, comparison with public databases and expansion to cDNA clones. Localization of the exons to chromosome 21 has been determined by hybridization to genomic Southern blots and to YAC and cosmid clones representing the region. This has resulted in a higher resolution physical map with a marker approximately every 25 kb. This integrated physical and transcript map will be valuable for fine mapping of DNA from individuals with partial aneuploidy of chromosome 21 as well as for assessing and ultimately generating a complete gene map of this segment of the genome.

Base Sequence↗

Childhood disintegrative disorder: results of the DSM-IV autism field trial.

OBJECTIVE: This report is concerned with the classification of children in whom an "autistic-like" syndrome develops after some years of normal development. In DSM-IV the term "childhood disintegrative disorder" (CDD) is used to describe such cases. METHOD: Data collected as part of the international, multisite DSM-IV field trial for autism and related conditions were examined and cases that met DSM-IV criteria for CDD were identified. RESULTS: In 16 cases the clinician had given a CDD diagnosis; in an additional 10 cases criteria for the condition were met even though this diagnosis was not given by the clinician rating the case. CONCLUSIONS: The available data suggest that CDD cases can be differentiated from those with autism; these two groups appear to differ in important ways. The identification of cases of CDD may be of particular importance for research.

Adolescent↗

Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).

A young adult female with multiple exostoses, short stature, autism, mental retardation and 46,X,t(X;8)(p22.13;q22.1) is described. Although the clinical features and translocation breakpoints raise the possibility of a number of specific conditions, the constellation of problems is not consistent with any previously reported genetic syndrome. It is argued that her clinical disorder is likely due to the chromosomal abnormality and that further detailed molecular genetic investigation may shed light on the genetic basis to various components of her phenotype including the autism.

Abnormalities, Multiple↗

Clinical implications of attachment concepts: retrospect and prospect.

The key features of attachment theory are summarized and the unresolved questions considered in terms of a behavioural control system, measurement of attachment security, qualities of attachment, the role of temperament, transformation of a dyadic quality into an individual characteristic, internal working models, manifestations of attachment post infancy, how one relationship affects another relationship, boundaries of attachment, associations with later functioning, the role of parenting qualities and patterns of caregiving, adaptive value of secure attachment, and disorders of attachment. The clinical implications are discussed in terms of: the need to reject the traditional psychoanalytic theories of development, the patterns of residential care for children, the provision of child care, the assessment of parenting, the effects of parental divorce and family break-up, "maternal bonding" to infants, psychotherapy and disorders of attachment.

Child↗

Relationships between mental disorders in childhood and adulthood.

Research findings on continuities and discontinuities in psychopathology between childhood and adult life are reviewed with respect to major depressive disorders, anxiety states, obsessional conditions, anorexia nervosa, conduct disorders, hyperkinetic disorders, autism, specific developmental disorders of language and schizophrenia. The findings are used to consider both the conceptual issues and possible mediating mechanisms.

Adult↗

A 15-20 year follow-up of adult psychiatric patients. Psychiatric disorder and social functioning.

BACKGROUND: An exploratory study was undertaken of the importance of personality disorder in predicting the long-term outcome for both episodic disorders and social functioning. METHOD: In 1966-67, a representative series of patients with children, free of episodic illness for at least one year, was sampled from the Camberwell Psychiatric Register and systematically assessed over a four-year period, using measures of known reliability and validity. Psychiatric disorder was measured using a PSE-compatible instrument. The follow-up after 15-20 years used the PSE and a systematic assessment of social functioning. RESULTS: Overall outcomes were similar across diagnoses, but an initial categorical diagnosis of personality disorder predicted much poorer outcomes on psychiatric and social measures for patients with unipolar depressive disorders than for those with other diagnoses. CONCLUSIONS: The findings indicate the importance for prognosis of including a systematic assessment of personality disorder in the clinical assessment of patients with depressive disorder.

Adolescent↗

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↗