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Biomedical subjects

P Howlin

Publications and source records attributed to P Howlin.

At least 19 recordsLinked to original sources
PubMed2006

Outcome in adult life for people with Williams syndrome-- results from a survey of 239 families.

BACKGROUND: Although there has been considerable research into the genotype and phenotype of Williams syndrome, there have been relatively few studies of long-term prognosis. As a preliminary to a more detailed investigation of adults with Williams syndrome, a parental questionnaire was distributed to members of the UK Williams Syndrome Foundation, focusing on areas of skill and difficulties in adult life. METHOD: A postal questionnaire was distributed to all members of the UK Williams Syndrome Foundation who had a son or daughter aged 18 years or over. The questionnaire covered issues related to the physical and mental health of the adults with Williams syndrome, together with questions about educational and employment status, self-help and independence skills. RESULTS: Out of a total of 290 questionnaires distributed, 239 were returned (82% response rate). The data highlighted the continuing high rates of physical problems in this group and apparent increases in rates of mental health problems with age. Parents also expressed their concerns about the lack of adequate support and care. Educational and employment attainments were generally low and self-help skills were relatively poor. DISCUSSION: The findings highlight the need for far better understanding of conditions such as Williams syndrome among professionals working in adult services and the need for more adequate support from educational, health and social services.

Activities of Daily Living↗
PubMed2005

The effectiveness of interventions for children with autism.

Over the past 50 years very many different treatments have been promoted as bringing about significant improvements, or even cures, for children with autism. However, few interventions involve controlled studies of any kind; randomised control trials are virtually non-existent and when appropriate research methodology has been applied the results are generally far from positive. Recent research suggests that the most effective results stem from early intensive behavioural interventions. Although many questions remain concerning the optimal age at which treatment should begin, the intensity of treatment and the many other variables that may affect outcome, there is growing evidence of general strategies that can be effective in ameliorating the problems associated with autism.

Autistic Disorder↗
PubMed2004

Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome.

Although the physical characteristics of Cohen syndrome have been studied in considerable detail, data on other aspects of development are relatively limited. We report findings on cognitive, linguistic, and adaptive profiles in a group of 45 individuals clinically diagnosed with Cohen syndrome when aged between 4 and 49 years. The profile of skills observed was consistent with other recent findings. Thus, independence levels generally were poor, but socialization skills as assessed by the Vineland were relatively less impaired. This particular area of strength probably underlies the 'sociable' temperament typically associated with Cohen syndrome. However, the range of cognitive ability was wider than reported in most previous research, raising the issue of whether mental retardation should be considered as a necessary component of the phenotype. The implications for genetic testing are discussed.

Abnormalities, Multiple↗
PubMed2001

Autistic features in Cohen syndrome: a preliminary report.

Cohen syndrome is a rare, genetic, connective-tissue disorder, with the genetic abnormality linked to chromosome 8q22. Its physical features (particular facial characteristics; body, limb, and visual abnormalities; height and weight problems) have been well documented but little is known about the psychological and behavioural development of individuals with the condition. Suggestion of a dual diagnosis of autism in a small minority of individuals led to a more detailed survey of parents belonging to the Cohen Syndrome Support Group, based in the UK. Thirty-three individuals, 18 males and 15 females, aged from 2 to 45 years (mean age 15 years) were involved in the study. Over half of the participants (n=19) showed a pattern of impairments in social and communication skills, together with rigid and stereotyped behaviours or interests that seemed to meet DSM-IV/ICD-10 criteria for autism. 'Autistic-type' problems were as common in females as in males. In almost all cases, parents had noted difficulties in their child before the child reached the age of 1 year. This study suffers from a number of methodological shortcomings including the fact that it was a postal survey, the sample size was small, and no standardized diagnostic or psychometric data were available. However, the incidence of social, communication, and behavioural problems would seem to warrant further research and a larger-scale study is planned in association with an independent investigation of physical and genetic characteristics in the same group of individuals.

Adolescent↗
PubMed2001

Monitoring the progress of preschool children with autism enrolled in early intervention programmes: problems in cognitive assessment.

This report examines how conclusions about the progress of preschool children enrolled in early intervention programmes may be influenced by the use of different cognitive assessment tools. As part of a longitudinal treatment outcome study, 24 children with autism aged between 27 and 58 months were each tested on the Bayley, Merrill-Palmer and Vineland scales. Their performance on each of these tests was compared. Results showed that, while scores on the different tests were highly correlated, actual test scores varied considerably, with the Bayley tending to produce the lowest IQ scores and the Merrill-Palmer the highest. These findings have important implications, as it is evident that judgements about the effects of therapy may be significantly influenced by the selection of the tests for pre- and post-treatment assessments. Possible ways of collecting, recording and reporting test data, so as to avoid spurious conclusions about treatment effects, are discussed.

Achievement↗
PubMed2000

The functional neuroanatomy of social behaviour: changes in cerebral blood flow when people with autistic disorder process facial expressions.

Although high-functioning individuals with autistic disorder (i.e. autism and Asperger syndrome) are of normal intelligence, they have life-long abnormalities in social communication and emotional behaviour. However, the biological basis of social difficulties in autism is poorly understood. Facial expressions help shape behaviour, and we investigated if high-functioning people with autistic disorder show neurobiological differences from controls when processing emotional facial expressions. We used functional MRI to investigate brain activity in nine adults with autistic disorder (mean age +/- standard deviation 37 +/- 7 years; IQ 102 +/- 15) and nine controls (27 +/- 7 years; IQ 116 +/- 10) when explicitly (consciously) and implicitly (unconsciously) processing emotional facial expressions. Subjects with autistic disorder differed significantly from controls in the activity of cerebellar, mesolimbic and temporal lobe cortical regions of the brain when processing facial expressions. Notably, they did not activate a cortical 'face area' when explicitly appraising expressions, or the left amygdala region and left cerebellum when implicitly processing emotional facial expressions. High-functioning people with autistic disorder have biological differences from controls when consciously and unconsciously processing facial emotions, and these differences are most likely to be neurodevelopmental in origin. This may account for some of the abnormalities in social behaviour associated with autism.

Adult↗
PubMed2000

Autism and developmental receptive language disorder--a comparative follow-up in early adult life. I: Cognitive and language outcomes.

In this paper we compare adult outcome in a group of young men with autism and a group with developmental receptive language disorders. The two groups were first assessed in early childhood, when aged 7 to 8 years of age. Although matched at that time for nonverbal IQ (mean 92-93) and expressive language ability, the Autism group was significantly more impaired on most measures of social and communication skills and stereotyped behaviours. A later follow-up, in mid-childhood, suggested that although the groups were still quite distinct, social and behavioural problems had become more apparent in the Language group. The current study was completed when the participants were aged, on average, 23 to 24 years. The findings indicated that verbal IQ and receptive language scores had improved significantly more in the Autism group than in the Language group over time. Moreover, although the Language group were less severely impaired in their social use of language, many showed a number of abnormal features in this domain. There were no differences between the groups on tests of reading or spelling. Discriminant function analysis, which had clearly distinguished between the groups as children, now showed much greater overlap between them. Regression analysis indicated that although early language ability appeared to be related to outcome in the Autism group, in the Language group there was little association between measures of childhood functioning and later progress. The implications of these findings for understanding the nature of the underlying deficit in autism and the relationship between the two disorders are discussed.

Adult↗
PubMed2000

Autism and developmental receptive language disorder--a follow-up comparison in early adult life. II: Social, behavioural, and psychiatric outcomes.

This paper focuses on general social functioning in two groups of young men, one with autism and one with developmental receptive language disorders, who were first assessed at the ages of 7-8 years. At that time, although matched for nonverbal IQ (mean 92-93) and expressive language, the Language group showed significantly fewer social and behavioural problems. At follow-up, when aged on average, 23 to 24 years, the Autism group continued to show significantly more impairments in terms of stereotyped behaviour patterns, social relationships, jobs, and independence. However, problems in all these areas were also common in the Language group. Many still lived with their parents, few had close friends or permanent jobs, and ratings of social interaction indicated abnormalities in a number of different areas. On a composite measure of social competence only 10% of the Language group was assessed as having severe social difficulties compared to 74% of the Autism group. Nevertheless, 65% were rated as having moderate social problems and only 25% were rated as being of near/normal social functioning. Two individuals in the Language group, but none in the Autism group, had also developed a florid paranoid psychosis in late adolescence. As in the follow-up of cognitive and linguistic functioning (see Mawhood et al., 2000, this volume, pp. 547-559), discriminant function analysis, which had clearly distinguished between the groups as children, now showed much greater overlap between them. Regression analysis indicated that although early language ability appeared to be related to outcome in the Autism group, there was little association between any measures of childhood functioning and prognosis in the Language group. Theoretically, these findings have implications for our understanding of the nature of autism and other pervasive language disorders, and of the relationship between them. Practically, they demonstrate the very persistent problems experienced by individuals with developmental language disorders, and their need for much greater help and support than is presently available.

Activities of Daily Living↗
PubMed1999

Social, communicational, and behavioral deficits associated with ring X turner syndrome.

We describe the cognitive and behavioral characteristics of five individuals with a ring X chromosome. All subjects had a small active (early replicating) ring X chromosome. The X inactive specific transcript (XIST) locus was confirmed by fluorescent in situ hybridisation (FISH) to be present in all ring X chromosomes. Mental retardation was present in four individuals. All patients with or without mental retardation had a characteristic profile of aggression toward self and others, episodes of screaming, attentional problems, and impulsiveness. Autistic-like features were also present in all individuals and included limited communication, obsessive compulsive behavior, and social difficulties. In some cases the obsessive behavior was extreme and incapacitating. This characteristic behavioral profile may aid the diagnosis and future understanding of ring X.

Adolescent↗
PubMed1999

Spatial working memory in Asperger's syndrome and in patients with focal frontal and temporal lobe lesions.

Spatial working memory (SWM) was investigated in 15 patients with Asperger's syndrome (AS) comparing their performance to 18 age- and IQ-matched control subjects. An additional comparison was made with 20 unilateral frontal excision patients [9 right (RFL); 11 left (LFL)] and with 38 unilateral temporal lobectomy patients [18 right (RTL); 18 left (LTL)], the frontal and temporal lobe patients having separate matched control groups. SWM was tested using the Executive Golf Task, a test that also measures spatial strategy formation. The AS group showed a substantial deficit on SWM, but no impairment in strategy formation. The LFL showed the same pattern of impairment, but with a less substantial deficit. The RFL group showed a large deficit, but some of this was accounted for by a strategy formation impairment. Of the temporal lobe lesions groups, only the RTL group was impaired on SWM, but this group showed normal strategy formation. It was concluded that the SWM deficit in AS may reflect a more general difficulty in accessing different types of representations in order to guide voluntary behavior, providing at least a partial explanation for the executive deficits found in AS.

Adolescent↗
PubMed1999

The diagnosis of autism and Asperger syndrome: findings from a survey of 770 families.

As part of a wider survey of parents of children with autistic spectrum disorders in the UK, the diagnostic experiences of 614 parents of children with autism and 156 with Asperger syndrome were compared. Although the ages of the children in the two groups were very similar at the time of the survey, parents of children given a diagnosis of Asperger syndrome had experienced significantly longer delays and greater frustration in obtaining a diagnosis than those with a child with autism. In the 'autism group' the average age when diagnosis was confirmed was around 5.5 years; in the 'Asperger group' it was 11 years. Parents of children with a diagnosis of autism were generally aware of problems in their child's development by 18 months of age; in the Asperger group concerns emerged later, at around 30 months of age. Initial worries in both groups centred around abnormal social development but parents of children with Asperger syndrome were less likely to have noted communication problems. Stereotyped or repetitive behaviours were not prominent in the early years in either group. Despite the problems inherent in data collected by postal survey, many of the findings of this study are supported by other research. The practical implications of delayed diagnosis, especially in the case of more able children with Asperger syndrome are discussed.

Age Factors↗
PubMed1998

Linguistic dissociations in Williams syndrome: evaluating receptive syntax in on-line and off-line tasks.

Williams syndrome (WS) is a neurodevelopmental disorder of genetic origin which results in relatively spared language in the face of serious non-verbal deficits. There is controversy, however, about how intact WS language abilities are. The discussion has focused on impairments of lexico-semantics and of morphological feature analysis, with the presumption that WS syntax is intact. We challenged this view and assessed WS receptive syntax by using two tasks testing various syntactic structures: an on-line word monitoring task and an off-line picture-pointing task. WS performance on the off-line task was generally poor. By contrast, their performance on the on-line task was far better and allowed us to ascertain precisely which aspects of WS receptive syntax are preserved and which are impaired. WS participants were sensitive to the violation of auxiliary markers and phrase structure rules but, unlike both the normal young and elderly controls, they did not show sensitivity to violations of subcategory constraints. The present study suggests that there exist dissociations within WS language which are not restricted to lexico-semantics or to morphological feature analysis, but which also invade their processing of certain syntactic structures. We conclude by arguing that WS syntax is not intact and that their language might turn out to be more like second language learning than normal acquisition.

Adolescent↗
PubMed1998

Community care for adults with Williams syndrome: how families cope and the availability of support networks.

A study of the adjustment difficulties and needs of 70 adults with Williams syndrome found that the majority continued to live at home and remained heavily dependent on their families for their self-care. Twenty-nine families (41.4%) had had no contact with a social worker in the preceding 2 years, and 34 out of the 48 families whose children still lived at home (70.8%) had no access to respite care. Advice regarding benefits, and appropriate living and occupational arrangements for the adults was also patchy. Despite progressive medical problems, and high rates of behavioural and emotional difficulties, only 20 adults (29%) were receiving regular health checks, while 21 (30%) had had some contact with a mental health service in the preceding 2 years. In the majority of cases, families continued to shoulder the main burden of care for their sons and daughters with Williams syndrome well into adulthood, with little support from statutory and voluntary agencies. The implications of these findings are considered with regard to the principles of community care.

Adaptation, Psychological↗
PubMed1998

Adults with Williams syndrome. Preliminary study of social, emotional and behavioural difficulties.

BACKGROUND: In recent years there has been an upsurge of interest in the study of distinctive patterns of behavioural and psychological characteristics associated with specific, biologically determined, intellectually disabling conditions. This study investigates whether such a profile can be identified in adults with Williams syndrome. METHOD: Parents and other care-givers were interviewed about the social, emotional and behavioural characteristics of 70 adults with Williams syndrome, aged 19 years to 39 years 9 months. RESULTS: The adults were reported to have high rates of behavioural and emotional difficulties, particularly in terms of poor social relationships, over-friendliness and social disinhibition, preoccupations and obsessions, and high levels of anxiety and distractibility. CONCLUSIONS: The findings provide preliminary support for the existence of a specific pattern of behavioural and personality characteristics and associated difficulties in adults with Williams syndrome, which persist from childhood and often require intervention from mental health professionals. Implications for clinical practice are considered.

Adolescent↗
PubMed1998

Cognitive functioning in adults with Williams syndrome.

This paper reports the results of cognitive, linguistic, and academic assessments in a representative sample of 62 adults with Williams syndrome. The average age of the group was 26 years and their mean full scale IQ was 61. Differences between Verbal and Performance IQ, and between receptive and expressive language skills, were smaller than generally found in studies of children with this condition. However, an examination of subtest scores revealed an almost identical cognitive profile to that found in children. Skills in other areas, such as reading, spelling, arithmetic, and social adaptation remained at a low level, with functioning generally being around a 6-8-year age equivalent. The consistency of reports on intellectual abilities in both child and adult studies of individuals with Williams syndrome lends increased support to the notion of a syndrome specific pattern of cognitive, linguistic, and adaptive functioning.

Adolescent↗
PubMed1998

Practitioner review: psychological and educational treatments for autism.

The review discusses various interventions that have been used in the treatment of children with autism. It concludes that no single mode of treatment is ever likely to be effective for all children and all families. Instead, intervention will need to be adapted to individual needs and the value of approaches that involve a functional analysis of problems is explored. It is suggested that many so called "challenging" behaviours result from the child's fundamental difficulties in communication and social understanding, or from the ritualistic and obsessional tendencies that are also characteristic of autism. Possible ways in which parents and teachers might deal with problems in these areas are discussed. The importance of early diagnosis, and with it early, practical advice for families is stressed.

Autistic Disorder↗
PubMed1997

Independence and adaptive behavior in adults with Williams syndrome.

This study describes the adjustment of 70 adults with Williams syndrome, in terms of self-help skills, independence, and occupational levels. Although the overall mean IQ of the group (62.00) was within the mild mental handicap range, relatively few individuals were able to attain a high level of independence or cope with the demands of employment. Adaptive behavior scores were significantly below chronological age. Outcome measures were compared with available data on other groups of adults of similar age and level of intellectual impairment. Implications for the community care of adults with Williams syndrome are discussed.

Activities of Daily Living↗