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The area of behavioural phenotype research and related clinical practice is now recognised as one of high relevance to all practitioners who help people with learning disabilities, whatever their age. Knowledge continues to accumulate rapidly regarding aspects pertaining to aetiology, likely developmental, emotional and behavioural challenges, useful multidisciplinary interventions and supports and long‐term prognosis. This paper reviews the concept, its history and recent developments, focusing on those aspects which are of particular importance to clinical and other care and support professionals and their clients. There is a continuing need for widespread dissemination of the large body of relevant information, and its application to practice in order to maximise benefits for people with learning disabilities and their families.

This paper presents the viewpoint of a parent of two children with Fragile X syndrome.

The paper presents the author's views of her and her family's experience of Fragile X syndrome.

The paper provides the author's perspective on the impact that the condition has had on family life.

The paper provides a unique insight into the day-to-day experiences of a parent of two children with Fragile X syndrome.

The purpose of this paper is to present the viewpoint of someone with Fragile X syndrome.

The paper presents the author's views and experiences of living with Fragile X syndrome.

The paper provides the author's perspective on diagnosis, the impact on family life, dealing with stigma and the effect that the condition had on school, college, work and interactions with other people.

The paper provides a unique insight into the day-to-day experiences of living with Fragile X syndrome.

This article focuses on the consequences of having FraX‐E, the rare but well recognised variant of fragile X syndrome. The authors provide some background on the condition and report on recent research and evidence. Three case reports are outlined and the specific behavioural aspects of the syndrome are considered. The authors argue that it is important that the behavioural phenotype for FraX‐E is clearly identified and defined in order to give those with the condition relevant psychological and educational support in the future.

The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults.

A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers.

Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome.

This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

People with fragile X syndrome (FXS), a monogenetic disorder with frequent autism spectrum disorder symptoms, are confronted with many health-related needs, especially concerning behavioural and mental problems. The number of publications about health inequalities or the usage of health services in persons with FXS is scarce in general. There is no information about the situation in Germany. The paper aims to discuss this issue.

Assessment of health status, access to, and satisfaction with health care in people with fragile X by a questionnaire completed by their parents.

A total of 74 questionnaires were included in the assessment. While children and adolescents with FXS often (40 per cent) utilised specialised services for the coordination of health-related services, adults most often made use of family doctors. Most parents described the health status of their relatives as good to excellent (89 per cent). However, the satisfaction with health care-related demands by family doctors, medical specialists, and psychotherapists was rated in the average to above average range.

This paper is of special value as it gives insight into the perspective of parents concerning access to health care of FXS in Germany.

This paper gives a first insight concerning access of people with FXS to the German health care system.

This paper seeks to discuss the complexity of the relationship between genotype and phenotype and highlight the importance of a greater understanding of behavioural phenotypes in genetic syndromes. The aim is to explore the developmental trajectory of the behavioural phenotypes as individuals emerge from childhood into adulthood and beyond.

Information was gathered from a search of the relevant literature over the past 20 years using Medline and PsycINFO databases in May 2010 as well as information published in textbooks on this matter.

The outcomes were considered under five areas of functioning: cognition, communication, behaviour, social functioning and propensity to psychiatric illnesses. The research thus far suggests that outcomes in behavioural phenotypes in adults are extremely variable. Individual predictions are difficult to make. However, some trends do emerge.

Findings of particular interest are the rates of attention deficit hyperactivity disorder and autism spectrum conditions and how these change over the developmental trajectory. The paper highlights the need for further research in this area and discusses the need to view behavioural phenotypes as a continuum across the lifespan.

Sleep disorders are extremely common in children and young people, and even more so in those with developmental disabilities. This client subgroup may prove refractory to standard behavioural and other psychosocial interventions that usually help and it is frequent for clinicians to resort to medication approaches given the high levels of personal and family distress that result. There is a need not only for further well structured research in this field but also for efforts to tackle the frequent relative neglect by clinicians of more researched and considered approaches. This review examines these issues selectively, focusing on important clinical issues and predicaments, and attempts a start at an evidence‐based background for practical and rational prescribing in this area of common childhood psychopathology.